The National Organization for Rare Disorders (NORD) has announced the availability of research grants for 2009. NORD states that its Research Grant Program provides seed-money grants to academic scientists for ... Read More

Phenylketonuria (fen-ul-keetone-YU-ree-ah, or PKU) is an inherited metabolic disorder. In PKU, the body cannot completely break down the protein phenylalanine because a necessary enzyme, phenylalanine hydroxylase, is deficient. All newborn ... Read More

The U.S. Food and Drug Administration (FDA) on March 10, 2009, issued a position statement on allowing individuals with amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease) access to a ... Read More

The body makes and breaks down chemical compounds all the time, but sometimes these processes don't work correctly. Usually this is due to an inherited genetic disorder. This type of ... Read More

Director Tom Vaughn and CBS Films are planning to release a film called, "The Untitled Crowley Project," starring Harrison Ford, Brendan Fraser, Keri Russell, and Courtney B. Vance. Being filmed ... Read More

Jackson-Weiss syndrome is a genetic disorder of chromosome 10 that causes distinctive birth defects of the head and face. In the feet, the bones of some toes may be fused ... Read More

The ABLE Act of 2009 was introduced into both houses of the U.S. Congress on February 26, 2009. The purposes of the Act are: To encourage and assist individuals and families ... Read More

Gaucher disease is an inherited storage disorder (also called inborn error of metabolism). In the disease, a specific enzyme is deficient. This deficiency allows a fatty substance known as glucocerebroside ... Read More

UK researchers thought that people with Marfan syndrome, a connective tissue disorder, might have a greater risk for obstructive sleep apnea (OSA). A person with OSA has trouble breathing during ... Read More

Norrie disease is an inherited disorder that leads to blindness at birth or soon after, hearing loss, and developmental delay. Leukocoria (white pupil) is a symptom of Norrie disease. Follow me ... Read More